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Testing Baby: Parents, Policy and Public Opinion

Dilemmas Posed by the Rapid Expansion of Newborn Screening

by Rachel Grob

Newborn screening (NBS) — that heel stick which extracts blood from the newborn which is then tested in the state laboratory — is far and away the single most widely utilized form of genetic testing in the United States.  More than four million babies are born in the U.S. each year, and they are all screened at birth: if you were born in or after the 1960s, or have had a child in the last 45 years, you’ve probably been part of the process too.  Today, the number of conditions for which it is mandatory to screen newborns is expanding “like a house on fire” ‘€“ from an average of about eight conditions per state in 2004, to nearly 50 in most states today.

Lives are saved because of NBS, and lives are also changed by it.  When the program began, it tested for one metabolic condition (PKU) that manifests early in life — a condition that was fairly well understood at the time testing began, and is treatable.  Despite some kinks, NBS for PKU was a huge public health success story.  Now, however, states screen for many conditions that do not result in symptoms early in life, for which treatment does not yet exist or is experimental, and that manifest in ways that are not well understood.  My research focuses on what the unintended consequences of this expansion has been, and how it is that one sub-set of parents — those whose child was or might have been saved or greatly helped by NBS — have become regarded as the single voice of parents in public conversations about what conditions should be screened for at birth now that new technology makes screening for more and more conditions relatively easy and inexpensive.

As the Director of National Initiatives and scholar in residence at the Center for Patient Partnerships at the University of Wisconsin, I’ve had the opportunity to interview parents of diagnosed babies and directors of NBS programs across the country.  I recently published what I learned in a book, Testing Baby, which examines the impact of the infant’s early diagnosis on how parents care for their babies, parents’ outlook for the future, and their relationships with other family members. I also describe how newborn screening can change the dynamic between parents and health providers, making new parents less sure of their own knowledge and more dependent on professionals.

In the policy arena, NBS is often portrayed as synonymous with “saving babies,” even as program expansion has meant a larger and larger proportion of those identified as “positive” receive ambiguous diagnoses, are identified as carriers of genetic disorders (but are not directly affected), or have a genetic “variant of unknown significance.”  As new technology makes more testing possible, what I call a “narrative of urgency” still holds sway in the policy arena.  As one state-level administrator told me, after families with affected kids tell their ‘€œhorrible stories’€ in public, there is ‘€œvirtually nobody willing to speak’€ out loud about any other aspect of complex NBS policy dilemmas. However, the research I have done highlights the fact that expanded screening raises important questions about the promise and limitations of new screening technology, and could come increasingly to influence the post-birth period as larger and larger numbers of parents are confronted with genetic information about their baby before they have yet really gotten to know her.  I hope that what I’ve written will help make public policy deliberations more thoughtful, and make all of us more aware about what our babies are tested for now and what may be at stake as more testing is proposed.

Nyack resident Rachel Grob is the Director, National Initiatives and Scholar in Residence at the Center for Patient Partnerships at the University of Wisconsin in Madison. Her new book, Testing Baby: The Transformation of Newborn Screening, Parenting, and Policymaking, is available at  Rutgers University Press. Rachel will be leading a discussion on this topic at the Nyack Library on Thurs Oct 18 at 7p.

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